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Protocol Details

Von Hippel-Lindau (VHL): Clinical Manifestations, Diagnosis, Management and Molecular Bases of Inherited Renal and Other Urologic Malignant Disorders

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

89-C-0086

Sponsoring Institute

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Hereditary Papillary Renal Cancer (HPRC);
Birt Hogg Dube (BHD);
Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC);
Pheochromocytoma;
Von Hippel-Lindau (VHL)

Recruitment Keyword(s)

None

Condition(s)

Kidney Cancer;
Urologic Malignant Disorders;
Renal Cell Carcinoma;
Familial Renal Cancer (FRC);
Clear Cell Renal Cancer

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Cancer Institute

We will investigate the clinical manifestations and molecular genetic defects of heritable urologic malignant disorders. Families with urologic malignancy with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline urologic malignant disorder will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated.

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Eligibility

INCLUSION CRITERIA:

Participants must be greater than or equal to 2 years of age. All patients and guardians (for children younger than 18 years of age) must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. Patients under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation.

Criteria for Acceptance into this Study (i.e., Disease Categories):

Disease Category I

Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).

Disease Category II

Individuals and biologic family members with a suspected or an established diagnosis of an inherited urologic malignancy in which the disease gene is not yet known, specifically hereditary forms of Type II papillary renal cancer, clear cell renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.

Disease Category III

Individuals and biologic family members who have urologic malignant diseases of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers. A total of 5000 individuals will be enrolled during the study (i.e., that includes individuals registered since the beginning of the protocols in 1989 (89C0086) and 1999 (99C0101)).

Enrollment per Subject Category (to include both affected and unaffected biologic relatives)

Subject Category A:

Category A will include patients, and biologic relatives, who may or may not be affected who will be evaluated in the Warren G. Magnuson Clinical Center. Patients in this category will be eligible if they or their biologic family members manifest one or more of the following features in a pattern suggestive of a heritable urologic malignant disorder:

-One or more histologically proven or suspected renal carcinomas and/or cysts

-Cerebellar, spinal, medullary or cerebral hemangioblastomas

-Retinal angioma

-Pancreatic neuro-endocrine carcinoma, microcystadenoma and/or cysts

-Pheochromocytoma

-Papillary cystadenoma of the epididymis or broad ligament

-Endolymphatic sac tumor

-Cutaneous fibrofolliculomas or multiple skin-colored papules

-History of spontaneous pneumothorax

-Lung cysts

-Thyroid carcinoma

-Intestinal polyposis + / - colon cancer

-Cutaneous or Uterine leiomyoma or uterine leiomyosarcoma, sarcoma

Subject Category B:

Category B will include patients and the biologic relatives of patients with inherited urologic malignancies with the above listed clinical findings who live at a distance and who will not be evaluated at the Clinical Center. In some cases, local diagnostic testing may be necessary for these individuals in addition to collection of a blood sample for molecular analysis.

Subject Category C:

Category C will include biologic relatives who enroll in this study primarily for genetic linkage studies. These individuals will contribute a blood sample for DNA analysis only. No imaging diagnostic testing will be performed on individuals from this category.

EXCLUSION CRITERIA:

None


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

W. Marston Linehan, M.D.
National Cancer Institute (NCI)
NIHBC 10 - CRC BG RM 1-5942
10 CENTER DR
BETHESDA MD 20892
(240) 858-3700
linehanm@mail.nih.gov

Deborah A. Nielsen, R.N.
National Cancer Institute (NCI)
National Institutes of Health
Building 10
Room 13N218
10 Center Drive
Bethesda, Maryland 20892
(240) 760-6247
deborah.nielsen@nih.gov

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office
1-888-NCI-1937
ncimo_referrals@mail.nih.gov

Clinical Trials Number:

NCT00001238

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